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KRAS 突变在致癌作用中的不当行为。

Malfeasance of KRAS mutations in carcinogenesis.

机构信息

Department of Research, Rajiv Gandhi Cancer Institute and Research Centre, Sector-5, Rohini, New Delhi, Delhi, 110085, India.

Section of Molecular Diagnostics, Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, Delhi, India.

出版信息

Clin Exp Med. 2021 Aug;21(3):439-445. doi: 10.1007/s10238-021-00694-z. Epub 2021 Mar 12.

Abstract

Activating mutations in the KRAS gene (Kirsten rat sarcoma 2 viral oncogene homolog gene) are commonly seen across the various solid organ and hematolymphoid neoplasms. With the likelihood of the mutation specific KRAS inhibitor entering clinical practice, the present studies profiled the landscape of these mutations in the Indian population to add to databases and posit the clinical utility of its emerging inhibitors. This study included 489 formalin fixed paraffin-embedded (FFPE) tissue samples from consecutive patients during a 5-year period (2015-2019). The clinical records were obtained from the medical record archives of the institution. Library preparation was done using the Oncomine Assay™. Sequencing was performed using the Ion PGM Hi-Q Sequencing Kit on the Ion Torrent Personal Genome Machine (Ion PGM) as well as on Ion Torrent S5 sequencer using the S5 sequencing kit. Ion Torrent Suite™ Browser version 5.10 and Ion Reporter™ version 5.10 were used for data analysis. A total of 50 cases with KRAS mutations were observed occurring most commonly in the codons 12 and 13. The G12D mutation was the most commonly encountered subtype in our cohort (21/50), whereas the G12C mutation was observed in 5 cases, and interestingly, this mutation was only seen in patients with non-small cell lung carcinoma (NSCLC). In the largest cohort from Indian subcontinent reporting spectrum of KRAS mutations in human cancers, an incidence of 11% was observed across all cancer types. Therapies targeting the G12C mutations can benefit up to 20% KRAS-mutated NSCLC. Building databases of spectrum of KRAS mutations in different populations across diverse cancer types is the anticipatory step to this end.

摘要

KRAS 基因(Kirsten 大鼠肉瘤 2 病毒致癌基因同源物基因)的激活突变常见于各种实体器官和血液淋巴肿瘤。随着特定 KRAS 突变抑制剂可能进入临床实践,本研究对印度人群中这些突变的情况进行了分析,以增加数据库,并探讨其新兴抑制剂的临床应用。该研究纳入了 489 例连续患者的福尔马林固定石蜡包埋(FFPE)组织样本,这些样本来自于 5 年期间(2015-2019 年)。临床记录从机构的病历档案中获取。文库制备使用 Oncomine Assay™进行。测序使用 Ion PGM Hi-Q 测序试剂盒在 Ion Torrent Personal Genome Machine(Ion PGM)上进行,以及在 Ion Torrent S5 测序仪上使用 S5 测序试剂盒进行。使用 Ion Torrent Suite™Browser 版本 5.10 和 Ion Reporter™版本 5.10 进行数据分析。共观察到 50 例 KRAS 突变病例,最常见于密码子 12 和 13。G12D 突变是我们队列中最常见的亚型(21/50),而 G12C 突变仅在 5 例中观察到,有趣的是,这种突变仅见于非小细胞肺癌(NSCLC)患者。在印度次大陆报告的人类癌症 KRAS 突变谱中最大的队列中,观察到所有癌症类型的发生率为 11%。针对 G12C 突变的治疗方法可能使多达 20%的 KRAS 突变 NSCLC 受益。在不同癌症类型的不同人群中建立 KRAS 突变谱数据库是实现这一目标的预期步骤。

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